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Protein

Cytochrome b-245 light chain

Gene

CYBA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi94 – 941Iron (heme axial ligand)Sequence analysis

GO - Molecular functioni

  • electron carrier activity Source: UniProtKB
  • heme binding Source: InterPro
  • metal ion binding Source: UniProtKB-KW
  • protein heterodimerization activity Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL
  • superoxide-generating NADPH oxidase activity Source: Reactome

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Transport

Keywords - Ligandi

Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
R-HSA-1236973. Cross-presentation of particulate exogenous antigens (phagosomes).
R-HSA-3299685. Detoxification of Reactive Oxygen Species.
R-HSA-4420097. VEGFA-VEGFR2 Pathway.
R-HSA-5668599. RHO GTPases Activate NADPH Oxidases.

Protein family/group databases

TCDBi5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome b-245 light chain
Alternative name(s):
Cytochrome b(558) alpha chain
Cytochrome b558 subunit alpha
Neutrophil cytochrome b 22 kDa polypeptide
Superoxide-generating NADPH oxidase light chain subunit
p22 phagocyte B-cytochrome
p22-phox
Short name:
p22phox
Gene namesi
Name:CYBA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:2577. CYBA.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei91 – 12737Add
BLAST

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • dendrite Source: Ensembl
  • endoplasmic reticulum membrane Source: Reactome
  • endosome Source: Ensembl
  • Golgi apparatus Source: Ensembl
  • membrane Source: UniProtKB
  • mitochondrion Source: Ensembl
  • NADPH oxidase complex Source: BHF-UCL
  • neuronal cell body Source: Ensembl
  • perinuclear endoplasmic reticulum Source: Ensembl
  • phagocytic vesicle membrane Source: Reactome
  • plasma membrane Source: Reactome
  • secretory granule Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.
See also OMIM:233690
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241G → R in ARCGD. 4 Publications
Corresponds to variant rs28941476 [ dbSNP | Ensembl ].
VAR_012755
Natural varianti25 – 251G → D in ARCGD. 1 Publication
VAR_071860
Natural varianti25 – 251G → V in ARCGD. 1 Publication
Corresponds to variant rs179363891 [ dbSNP | Ensembl ].
VAR_060576
Natural varianti52 – 521L → P in ARCGD. 1 Publication
Corresponds to variant rs179363890 [ dbSNP | Ensembl ].
VAR_060577
Natural varianti53 – 531E → V in ARCGD. 1 Publication
Corresponds to variant rs179363893 [ dbSNP | Ensembl ].
VAR_060578
Natural varianti90 – 901R → Q in ARCGD. 1 Publication
Corresponds to variant rs104894513 [ dbSNP | Ensembl ].
VAR_005123
Natural varianti90 – 901R → W in ARCGD. 1 Publication
Corresponds to variant rs179363892 [ dbSNP | Ensembl ].
VAR_060579
Natural varianti94 – 941H → R in ARCGD. 1 Publication
Corresponds to variant rs104894510 [ dbSNP | Ensembl ].
VAR_005124
Natural varianti118 – 1181S → R in ARCGD. 2 Publications
Corresponds to variant rs104894514 [ dbSNP | Ensembl ].
VAR_005125
Natural varianti124 – 1241A → V in ARCGD. 2 Publications
Corresponds to variant rs179363894 [ dbSNP | Ensembl ].
VAR_060580
Natural varianti125 – 1251A → T in ARCGD. 2 Publications
Corresponds to variant rs119103269 [ dbSNP | Ensembl ].
VAR_060581
Natural varianti156 – 1561P → Q in ARCGD. 2 Publications
Corresponds to variant rs104894515 [ dbSNP | Ensembl ].
VAR_005126

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi157 – 1571P → Q: Loss of interaction with NOXO1. 1 Publication

Keywords - Diseasei

Chronic granulomatous disease, Disease mutation

Organism-specific databases

MalaCardsiCYBA.
MIMi233690. phenotype.
Orphaneti379. Chronic granulomatous disease.
PharmGKBiPA27075.

Chemistry

DrugBankiDB00514. Dextromethorphan.

Polymorphism and mutation databases

BioMutaiCYBA.
DMDMi311033459.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved1 Publication
Chaini2 – 195194Cytochrome b-245 light chainPRO_0000144907Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei147 – 1471PhosphothreonineCombined sources1 Publication
Modified residuei168 – 1681PhosphoserineBy similarity

Post-translational modificationi

The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.
Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP13498.
MaxQBiP13498.
PaxDbiP13498.
PeptideAtlasiP13498.
PRIDEiP13498.

PTM databases

iPTMnetiP13498.
PhosphoSiteiP13498.

Expressioni

Gene expression databases

BgeeiENSG00000051523.
CleanExiHS_CYBA.
ExpressionAtlasiP13498. baseline and differential.
GenevisibleiP13498. HS.

Organism-specific databases

HPAiCAB009492.

Interactioni

Subunit structurei

Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1 (via SH3 domain). Interacts with SH3PXD2A (By similarity). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4. Interacts with calprotectin (S100A8/9).By similarity5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NCF1P145987EBI-986058,EBI-395044
NOXO1Q8NFA26EBI-986058,EBI-7130806

GO - Molecular functioni

  • protein heterodimerization activity Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi107915. 10 interactions.
DIPiDIP-37650N.
IntActiP13498. 7 interactions.
MINTiMINT-5209680.
STRINGi9606.ENSP00000261623.

Structurei

Secondary structure

1
195
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi161 – 1655Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WLPNMR-A149-168[»]
ProteinModelPortaliP13498.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13498.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi133 – 18957Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the p22phox family.Curated

Phylogenomic databases

eggNOGiENOG410IXYN. Eukaryota.
ENOG4111MI6. LUCA.
GeneTreeiENSGT00390000002290.
HOGENOMiHOG000001585.
HOVERGENiHBG051278.
InParanoidiP13498.
KOiK08009.
OMAiKIEWAMW.
PhylomeDBiP13498.
TreeFamiTF328901.

Family and domain databases

InterProiIPR007732. Cyt_b558_asu.
[Graphical view]
PANTHERiPTHR15168. PTHR15168. 1 hit.
PfamiPF05038. Cytochrom_B558a. 1 hit.
[Graphical view]
PIRSFiPIRSF019635. Cytochr_b558a. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P13498-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGQIEWAMWA NEQALASGLI LITGGIVATA GRFTQWYFGA YSIVAGVFVC
60 70 80 90 100
LLEYPRGKRK KGSTMERWGQ KYMTAVVKLF GPFTRNYYVR AVLHLLLSVP
110 120 130 140 150
AGFLLATILG TACLAIASGI YLLAAVRGEQ WTPIEPKPRE RPQIGGTIKQ
160 170 180 190
PPSNPPPRPP AEARKKPSEE EAAVAAGGPP GGPQVNPIPV TDEVV
Length:195
Mass (Da):21,013
Last modified:November 2, 2010 - v3
Checksum:i428427AD19398240
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241G → R in ARCGD. 4 Publications
Corresponds to variant rs28941476 [ dbSNP | Ensembl ].
VAR_012755
Natural varianti25 – 251G → D in ARCGD. 1 Publication
VAR_071860
Natural varianti25 – 251G → V in ARCGD. 1 Publication
Corresponds to variant rs179363891 [ dbSNP | Ensembl ].
VAR_060576
Natural varianti52 – 521L → P in ARCGD. 1 Publication
Corresponds to variant rs179363890 [ dbSNP | Ensembl ].
VAR_060577
Natural varianti53 – 531E → V in ARCGD. 1 Publication
Corresponds to variant rs179363893 [ dbSNP | Ensembl ].
VAR_060578
Natural varianti72 – 721Y → H.3 Publications
Corresponds to variant rs4673 [ dbSNP | Ensembl ].
VAR_005122
Natural varianti90 – 901R → Q in ARCGD. 1 Publication
Corresponds to variant rs104894513 [ dbSNP | Ensembl ].
VAR_005123
Natural varianti90 – 901R → W in ARCGD. 1 Publication
Corresponds to variant rs179363892 [ dbSNP | Ensembl ].
VAR_060579
Natural varianti94 – 941H → R in ARCGD. 1 Publication
Corresponds to variant rs104894510 [ dbSNP | Ensembl ].
VAR_005124
Natural varianti118 – 1181S → R in ARCGD. 2 Publications
Corresponds to variant rs104894514 [ dbSNP | Ensembl ].
VAR_005125
Natural varianti124 – 1241A → V in ARCGD. 2 Publications
Corresponds to variant rs179363894 [ dbSNP | Ensembl ].
VAR_060580
Natural varianti125 – 1251A → T in ARCGD. 2 Publications
Corresponds to variant rs119103269 [ dbSNP | Ensembl ].
VAR_060581
Natural varianti156 – 1561P → Q in ARCGD. 2 Publications
Corresponds to variant rs104894515 [ dbSNP | Ensembl ].
VAR_005126
Natural varianti171 – 1711E → G.1 Publication
Corresponds to variant rs72667005 [ dbSNP | Ensembl ].
VAR_060582
Natural varianti174 – 1741V → A.5 Publications
Corresponds to variant rs1049254 [ dbSNP | Ensembl ].
VAR_054801
Natural varianti193 – 1931E → D.1 Publication
VAR_060583

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M21186 mRNA. Translation: AAA90925.1.
BT006861 mRNA. Translation: AAP35507.1.
AC116552 Genomic DNA. No translation available.
BC006465 mRNA. Translation: AAH06465.1.
AH002664 Genomic DNA. Translation: AAA52134.1.
CCDSiCCDS32504.1.
PIRiA28201.
RefSeqiNP_000092.2. NM_000101.3.
UniGeneiHs.513803.

Genome annotation databases

EnsembliENST00000261623; ENSP00000261623; ENSG00000051523.
GeneIDi1535.
KEGGihsa:1535.
UCSCiuc002flb.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

CYBAbase

CYBA mutation db

SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M21186 mRNA. Translation: AAA90925.1.
BT006861 mRNA. Translation: AAP35507.1.
AC116552 Genomic DNA. No translation available.
BC006465 mRNA. Translation: AAH06465.1.
AH002664 Genomic DNA. Translation: AAA52134.1.
CCDSiCCDS32504.1.
PIRiA28201.
RefSeqiNP_000092.2. NM_000101.3.
UniGeneiHs.513803.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WLPNMR-A149-168[»]
ProteinModelPortaliP13498.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107915. 10 interactions.
DIPiDIP-37650N.
IntActiP13498. 7 interactions.
MINTiMINT-5209680.
STRINGi9606.ENSP00000261623.

Chemistry

DrugBankiDB00514. Dextromethorphan.

Protein family/group databases

TCDBi5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

PTM databases

iPTMnetiP13498.
PhosphoSiteiP13498.

Polymorphism and mutation databases

BioMutaiCYBA.
DMDMi311033459.

Proteomic databases

EPDiP13498.
MaxQBiP13498.
PaxDbiP13498.
PeptideAtlasiP13498.
PRIDEiP13498.

Protocols and materials databases

DNASUi1535.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261623; ENSP00000261623; ENSG00000051523.
GeneIDi1535.
KEGGihsa:1535.
UCSCiuc002flb.5. human.

Organism-specific databases

CTDi1535.
GeneCardsiCYBA.
GeneReviewsiCYBA.
H-InvDBHIX0013335.
HGNCiHGNC:2577. CYBA.
HPAiCAB009492.
MalaCardsiCYBA.
MIMi233690. phenotype.
608508. gene.
neXtProtiNX_P13498.
Orphaneti379. Chronic granulomatous disease.
PharmGKBiPA27075.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXYN. Eukaryota.
ENOG4111MI6. LUCA.
GeneTreeiENSGT00390000002290.
HOGENOMiHOG000001585.
HOVERGENiHBG051278.
InParanoidiP13498.
KOiK08009.
OMAiKIEWAMW.
PhylomeDBiP13498.
TreeFamiTF328901.

Enzyme and pathway databases

ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
R-HSA-1236973. Cross-presentation of particulate exogenous antigens (phagosomes).
R-HSA-3299685. Detoxification of Reactive Oxygen Species.
R-HSA-4420097. VEGFA-VEGFR2 Pathway.
R-HSA-5668599. RHO GTPases Activate NADPH Oxidases.

Miscellaneous databases

ChiTaRSiCYBA. human.
EvolutionaryTraceiP13498.
GenomeRNAii1535.
PROiP13498.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000051523.
CleanExiHS_CYBA.
ExpressionAtlasiP13498. baseline and differential.
GenevisibleiP13498. HS.

Family and domain databases

InterProiIPR007732. Cyt_b558_asu.
[Graphical view]
PANTHERiPTHR15168. PTHR15168. 1 hit.
PfamiPF05038. Cytochrom_B558a. 1 hit.
[Graphical view]
PIRSFiPIRSF019635. Cytochr_b558a. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCY24A_HUMAN
AccessioniPrimary (citable) accession number: P13498
Secondary accession number(s): Q14090, Q9BR72
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: November 2, 2010
Last modified: September 7, 2016
This is version 170 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.